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    Mvb12b multivesicular body subunit 12B [ Mus musculus (house mouse) ]

    Gene ID: 72543, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mvb12bprovided by MGI
    Official Full Name
    multivesicular body subunit 12Bprovided by MGI
    Primary source
    MGI:MGI:1919793
    See related
    Ensembl:ENSMUSG00000038740 AllianceGenome:MGI:1919793
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fam125b; 2610200O14Rik; 2610528K11Rik
    Summary
    Predicted to enable lipid binding activity. Predicted to be involved in regulation of epidermal growth factor receptor signaling pathway; viral budding; and virus maturation. Predicted to be located in several cellular components, including cytosol; early endosome; and nucleus. Predicted to be part of ESCRT I complex. Predicted to be active in late endosome. Is expressed in 2nd branchial arch; 3rd branchial pouch; cerebral cortex intermediate zone; and cortical plate. Orthologous to human MVB12B (multivesicular body subunit 12B). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 7.7), CNS E14 (RPKM 6.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mvb12b in Genome Data Viewer
    Location:
    2 B; 2 22.51 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (33619965..33777958, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (33729953..33887946, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene LIM homeobox transcription factor 1 beta Neighboring gene Riken cDNA C130021I20 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:33544353-33544554 Neighboring gene RIKEN cDNA 9430024E24 gene Neighboring gene predicted gene, 52507 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:33672731-33672932 Neighboring gene predicted gene, 33856 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:33677308-33677491 Neighboring gene non-protein coding RNA, repressor of NFAT Neighboring gene VISTA enhancer mm716 Neighboring gene STARR-positive B cell enhancer mm9_chr2:33763748-33764049 Neighboring gene STARR-seq mESC enhancer starr_04250 Neighboring gene predicted gene, 39792 Neighboring gene STARR-positive B cell enhancer mm9_chr2:33789434-33789735 Neighboring gene predicted gene, 39793 Neighboring gene predicted gene 13403

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Intracellular bacteria engage a STING-TBK1-MVB12b pathway to enable paracrine cGAS-STING signalling. Nandakumar R, et al. Nat Microbiol, 2019 Apr. PMID 30804548, Free PMC Article
    2. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. Batsukh T, et al. PLoS One, 2012. PMID 23285124, Free PMC Article
    3. Gene expression profile of the third pharyngeal pouch reveals role of mesenchymal MafB in embryonic thymus development. Sultana DA, et al. Blood, 2009 Mar 26. PMID 19164599, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Apr 30. PMID 15449545
    5. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in viral budding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral budding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in viral budding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in virus maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in virus maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in virus maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT I complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ESCRT I complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    multivesicular body subunit 12B
    Names
    ESCRT-I complex subunit MVB12B
    family with sequence similarity 125, member B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_175184.4 → NP_780393.2  multivesicular body subunit 12B

      See identical proteins and their annotated locations for NP_780393.2

      Status: VALIDATED

      Source sequence(s)
      AL845360, BX649361
      Consensus CDS
      CCDS15946.1
      UniProtKB/Swiss-Prot
      A2ARF1, Q6KAU4, Q6PB42
      Related
      ENSMUSP00000048901.4, ENSMUST00000041555.10
      Conserved Domains (1) summary
      pfam10240
      Location:46 → 297
      DUF2464; Protein of unknown function (DUF2464)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      33619965..33777958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498373.1 → XP_006498436.1  multivesicular body subunit 12B isoform X11

      Conserved Domains (1) summary
      pfam10240
      Location:47 → 222
      DUF2464; Multivesicular body subunit 12

    2. XM_006498370.1 → XP_006498433.1  multivesicular body subunit 12B isoform X5

      Conserved Domains (1) summary
      pfam10240
      Location:47 → 250
      DUF2464; Multivesicular body subunit 12

    3. XM_036162602.1 → XP_036018495.1  multivesicular body subunit 12B isoform X7

      UniProtKB/TrEMBL
      Q8C2W4
      Conserved Domains (1) summary
      pfam10240
      Location:17 → 268
      DUF2464; Multivesicular body subunit 12

    4. XM_036162603.1 → XP_036018496.1  multivesicular body subunit 12B isoform X7

      UniProtKB/TrEMBL
      Q8C2W4
      Conserved Domains (1) summary
      pfam10240
      Location:17 → 268
      DUF2464; Multivesicular body subunit 12

    5. XM_030252115.2 → XP_030107975.1  multivesicular body subunit 12B isoform X7

      UniProtKB/TrEMBL
      Q8C2W4
      Conserved Domains (1) summary
      pfam10240
      Location:17 → 268
      DUF2464; Multivesicular body subunit 12

    6. XM_011239194.2 → XP_011237496.1  multivesicular body subunit 12B isoform X10

      Conserved Domains (1) summary
      pfam10240
      Location:47 → 251
      DUF2464; Multivesicular body subunit 12

    7. XM_006498367.5 → XP_006498430.1  multivesicular body subunit 12B isoform X1

      Conserved Domains (1) summary
      pfam10240
      Location:47 → 250
      DUF2464; Multivesicular body subunit 12

    8. XM_030252114.2 → XP_030107974.1  multivesicular body subunit 12B isoform X3

      Conserved Domains (1) summary
      pfam10240
      Location:18 → 221
      DUF2464; Multivesicular body subunit 12

    9. XM_030252112.2 → XP_030107972.1  multivesicular body subunit 12B isoform X3

      Conserved Domains (1) summary
      pfam10240
      Location:18 → 221
      DUF2464; Multivesicular body subunit 12

    10. XM_030252113.2 → XP_030107973.1  multivesicular body subunit 12B isoform X3

      Conserved Domains (1) summary
      pfam10240
      Location:18 → 221
      DUF2464; Multivesicular body subunit 12

    11. XM_006498368.5 → XP_006498431.1  multivesicular body subunit 12B isoform X2

      Conserved Domains (1) summary
      pfam10240
      Location:39 → 242
      DUF2464; Multivesicular body subunit 12

    12. XM_006498372.1 → XP_006498435.1  multivesicular body subunit 12B isoform X9

      Conserved Domains (1) summary
      pfam10240
      Location:47 → 251
      DUF2464; Multivesicular body subunit 12

    13. XM_006498371.5 → XP_006498434.1  multivesicular body subunit 12B isoform X6

      Conserved Domains (1) summary
      pfam10240
      Location:18 → 222
      DUF2464; Multivesicular body subunit 12

    14. XM_006498369.4 → XP_006498432.1  multivesicular body subunit 12B isoform X4

      Conserved Domains (1) summary
      pfam10240
      Location:47 → 251
      DUF2464; Multivesicular body subunit 12

    15. XM_036162605.1 → XP_036018498.1  multivesicular body subunit 12B isoform X8

      Conserved Domains (1) summary
      pfam10240
      Location:46 → 251
      DUF2464; Multivesicular body subunit 12
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6KAU4.2 GenPept UniProtKB/Swiss-Prot:Q6KAU4

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